Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
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DOI: 10.1016/j.ajhg.2017.05.016
Abstract: KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome sequencing identified de novo heterozygous missense mutations in four probands… read more here.
Keywords: intellectual disability; loss function; function gain; function ... See more keywords